A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11692086



Internal ID1693902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169999442..170001794hg38UCSC Ensembl
Innerchr4:169999492..170001744hg38UCSC Ensembl
Outerchr4:169999342..170001894hg38UCSC Ensembl
chr4:170920593..170922945hg19UCSC Ensembl
Innerchr4:170920643..170922895hg19UCSC Ensembl
Outerchr4:170920493..170923045hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg382353
hg192353
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603133
Supporting Variants
SamplesNA19723
Known GenesMFAP3L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11692086
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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